Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 28
SponsorChildren's Hospital of Fudan University
About this trial
The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can also significantly shorten the time of examination, improve the diagnosis rate, guide the clinical treatments. So the ultimate goal is individualized or personalized therapy and promote prognosis.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals
Clinical genetic testing or a genetic consult is ordered
Subject has one major structural anomaly or three or more minor anomalies
Abnormal laboratory testing suggestive of a genetic disease
Disqualifiers
Previously performed exome/genome sequencing on patient
Any infant in which clinical considerations preclude drawing 1.0 ml of blood
Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other)
Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
Trial population
The study population will be recruited from Hospital inpatient population, primarily the neonatal intensive care unit who has some anomaly or abnormal laboratory testing suggestive of a genetic disease.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
2,000 Participants
are grouped into 1 trial groupGroup A: Birth Defects
Trial outcomes
Primary outcomes
1
Mortality
The relative frequency of deaths in each group.
Time frame
At corrected age of 18 months2
Disability Rate
Disability, defined as a physical or mental handicap, especially one that prevents a person from living a full, normal life or from holding a gainful job.
Time frame
At corrected age of 18 months3
Gene Mutation
To detect the mutation and characterize the genetic architecture and risk variants of neonatal malformation using different genomic methods.
Time frame
In 30 days after receipt of the sampleSecondary outcomes
1
Neurodevelopment(Bayley Scores)
To evaluate neurodevelopmental function by Bayley Scores of Infant Development Mental Development Index (MDI), gain Incidence of MDI\<70(Severe) or MDI\<85(Moderate)
Time frame
At corrected age of 18 months2
Respiratory Support
To observe whether the clinical mornitoring will be changed after results disclosure
Time frame
In 14 days after results disclosure3
Care Level
To observe whether the care level will be changed after results disclosure
Time frame
In 14 days after results disclosureOther outcomes
1
The total cost for hospitalization
Determination of utilization of healthcare resources in hospital charges in both arms.
Time frame
At corrected age of 18 months2
Average days of hospitalization
From hospital to discharge.
Time frame
At corrected age of 18 months3
Parents' understanding of study results
Assessed in parent surveys via questions assessing: subjective understanding, importance of understanding.
Time frame
At corrected age of 3 months4
Parents' recall of study results
Assessed in parent surveys via questions assessing: results recall
Time frame
At corrected age of 3 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Children's Hospital of Fudan University
Lead sponsor
Xiamen Children's Hospital, Fujian of China
Collaborator
Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region
Collaborator
Guangzhou Women and Children's Medical Center
Collaborator
Second Affiliated Hospital of Wenzhou Medical University
Collaborator
Maternal and Child Health Hospital of Hubei Province
Collaborator
The Maternal & Children Health Hospital of Dehong, Yunnan of China
Collaborator
Source ClinicalTrials.gov